Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group
LAL-D presents significant diagnostic and management challenges, particularly within the GCC region, owing to its rarity, limited awareness, and insufficient utilization of genetic testing. The prevalence and distribution of genetic variations associated with LAL-D remain inadequately explored in this population. The development of standardized regional guidelines is essential to harmonize diagnostic and management practices. Continued research efforts focusing on the genetic landscape of LAL-D in the GCC are imperative to bridge knowledge gaps and enhance clinical outcomes for affected patients.
Authors
- Abdulrahman Al‐Hussaini (ORCID: https://orcid.org/0000-0003-4512-9070)
- Khalid Al‐Rasadi (ORCID: https://orcid.org/0000-0003-0460-1236)
- Mohamad Miqdady
- Khalid Bzeizi (ORCID: https://orcid.org/0000-0001-5346-6240)
- Majid Alfadhel (ORCID: https://orcid.org/0000-0002-9427-7240)
- Moeenaldeen AlSayed (ORCID: https://orcid.org/0000-0003-1995-8465)
- Ali Awaji
- Noura S. AlDhaheri (ORCID: https://orcid.org/0000-0002-1384-2915)
- Nadia Al Hashmi
- Amal Al Tenaiji
Institutions
- Alfaisal University (SA)
- Khalifa University of Science and Technology (AE)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- United Arab Emirates University (AE)
- King Faisal Specialist Hospital & Research Centre (SA)
- Shaikh Khalifa Medical City (AE)
- King Fahd Medical City (SA)
- Tawam Hospital (AE)
- Prince Mohammed bin Abdulaziz Hospital (SA)
- Royal Hospital (OM)
- National Guard Health Affairs (SA)
- Sultan Qaboos University (OM)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-12-05
- DOI
- https://doi.org/10.1186/s13023-025-04158-5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00